rs104893643

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs104893643(A;A)

Make rs104893643(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

27092357

Gene

KHK

is a	snp
is	mentioned by
dbSNP	rs104893643
dbSNP (classic)	rs104893643
ClinGen	rs104893643
ebi	rs104893643
HLI	rs104893643
Exac	rs104893643
Gnomad	rs104893643
Varsome	rs104893643
LitVar	rs104893643
Map	rs104893643
PheGenI	rs104893643
Biobank	rs104893643
1000 genomes	rs104893643
hgdp	rs104893643
ensembl	rs104893643
geneview	rs104893643
scholar	rs104893643
google	rs104893643
pharmgkb	rs104893643
gwascentral	rs104893643
openSNP	rs104893643
23andMe	rs104893643
SNPshot	rs104893643
SNPdbe	rs104893643
MSV3d	rs104893643
GWAS Ctlg	rs104893643

Max Magnitude

0

OMIM	229800
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104893643(A;A)
Alt	rs104893643(A;A)
Reference	Rs104893643(G;G)
Significance	Other
Disease	Fructosuria
Variation	info
Gene	KHK
CLNDBN	Fructosuria, essential
Reversed	0
HGVS	NC_000002.11:g.27315225G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012811.6,